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Entry Name Description Category Pathway Gene
H02469 Cone-rod synaptic disorder ... vision, photophobia, and a normal fundus appearance. Recently, It has been reported that mutations in RIMS2 cause a syndromic congenital cone-rod synaptic disease (CRSDS) with neurodevelopmental and pancreatic ... Nervous system disease (CRSD) CABP4 [HSA:57010] [KO:K23531]
(CRSDS) RIMS2 [HSA:9699] [KO:K15297]
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